Characterization of the dominant inheritance mechanism of Episodic Ataxia type 2

Characterization of the dominant inheritance mechanism of Episodic Ataxia type 2

Episodic Ataxia type 2 (EA2) is an autosomal dominant neuronal disorder linked to mutations in the Cav2.1 subunit of P/Q-type calcium channels. In vitro studies have established that EA2 mutations induce loss of channel activity and that EA2 mutants can exert a dominant negative effect, suppressing...

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Bibliographic Details
Main Authors: Kevin Dorgans, Julie Salvi, Federica Bertaso, Ludivine Bernard, Philippe Lory, Frederic Doussau, Alexandre Mezghrani
Format: Article
Language:English
Published: Elsevier 2017-10-01
Series:Neurobiology of Disease
Subjects:
Episodic ataxia
Cerebellum
Voltage activated calcium channel
Neurotransmission
P/Q-type calcium channel
Pathogenic mechanisms
Online Access:http://www.sciencedirect.com/science/article/pii/S0969996117301560

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http://www.sciencedirect.com/science/article/pii/S0969996117301560

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